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TGTCCTTCAACATTTTTACTGTAAG[A/C]TCTAGCAAGAAAATCAGGAAAACAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613833 MIM: 180480 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KANSL1L PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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KANSL1L - KAT8 regulatory NSL complex subunit 1 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001307976.1 | 5140 | Missense Mutation | GCT,TCT | A,S 814 | NP_001294905.1 | |
NM_152519.3 | 5140 | Missense Mutation | GCT,TCT | A,S 856 | NP_689732.2 | |
XM_005246328.4 | 5140 | Missense Mutation | GCT,TCT | A,S 889 | XP_005246385.1 | |
XM_005246329.4 | 5140 | Missense Mutation | GCT,TCT | A,S 856 | XP_005246386.1 | |
XM_005246330.4 | 5140 | Missense Mutation | GCT,TCT | A,S 856 | XP_005246387.1 | |
XM_005246332.4 | 5140 | Missense Mutation | GCT,TCT | A,S 847 | XP_005246389.1 | |
XM_005246334.4 | 5140 | Intron | XP_005246391.1 | |||
XM_006712320.3 | 5140 | Intron | XP_006712383.1 | |||
XM_011510706.2 | 5140 | Missense Mutation | GCT,TCT | A,S 856 | XP_011509008.1 | |
XM_011510707.2 | 5140 | Missense Mutation | GCT,TCT | A,S 856 | XP_011509009.1 | |
XM_011510709.2 | 5140 | Intron | XP_011509011.1 | |||
XM_011510710.2 | 5140 | Missense Mutation | GCT,TCT | A,S 428 | XP_011509012.1 | |
XM_017003430.1 | 5140 | Missense Mutation | GCT,TCT | A,S 856 | XP_016858919.1 | |
XM_017003431.1 | 5140 | Missense Mutation | GCT,TCT | A,S 383 | XP_016858920.1 |
LOC101928020 - uncharacterized LOC101928020 | ||||||
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There are no transcripts associated with this gene. |
RPE - ribulose-5-phosphate-3-epimerase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278282.1 | 5140 | Intron | NP_001265211.1 | |||
NM_001278283.1 | 5140 | Intron | NP_001265212.1 | |||
NM_001278285.1 | 5140 | Intron | NP_001265214.1 | |||
NM_001278286.1 | 5140 | Intron | NP_001265215.1 | |||
NM_001278288.1 | 5140 | Intron | NP_001265217.1 | |||
NM_001278289.1 | 5140 | Intron | NP_001265218.1 | |||
NM_001318926.1 | 5140 | Intron | NP_001305855.1 | |||
NM_001318927.1 | 5140 | Intron | NP_001305856.1 | |||
NM_001318928.1 | 5140 | Intron | NP_001305857.1 | |||
NM_001318929.1 | 5140 | Intron | NP_001305858.1 | |||
NM_001318930.1 | 5140 | Intron | NP_001305859.1 | |||
NM_001318931.1 | 5140 | Intron | NP_001305860.1 | |||
NM_006916.2 | 5140 | Intron | NP_008847.1 | |||
NM_199229.2 | 5140 | Intron | NP_954699.1 | |||
XM_006712677.3 | 5140 | UTR 3 | XP_006712740.1 |